Williams Andrew S, Greer Wenda, Bethune Drew, Craddock Kenneth J, Flowerdew Gordon, Xu Zhaolin
Department of Pathology, Dalhousie University and Queen Elizabeth II Health Sciences Centre, Halifax, NS, Canada.
Department of Surgery, Dalhousie University and Queen Elizabeth II Health Sciences Centre, Halifax, NS, Canada.
Virchows Arch. 2016 Nov;469(5):533-540. doi: 10.1007/s00428-016-2005-y. Epub 2016 Aug 25.
ALK gene rearrangements are identified in 2-5 % of all non-small cell lung cancer and are more common in lifetime non-smokers with adenocarcinoma, but the prevalence of ALK rearrangements is not as well characterized in long-term ex-smokers (quit >10 years prior to diagnosis). Accurate and timely diagnosis of ALK-rearranged tumors is of clinical importance given the remarkable response to targeted inhibitors. ALK gene rearrangement may be detected by fluorescence in situ hybridization (FISH), and abnormal expression of ALK protein may be detected by immunohistochemistry (IHC), the latter of which is faster and less expensive. The aim of this study is to evaluate the prevalence of ALK rearrangement in non-smokers and long-term ex-smokers with lung adenocarcinoma and to assess the performance of IHC for the detection of ALK+ tumors when compared to FISH. Two hundred fifty-one cases of resected lung adenocarcinoma were retrospectively reviewed, including non-smokers (n = 79) or long-term ex-smokers (n = 172). ALK IHC and ALK FISH were performed on each case. Four cases demonstrated ALK rearrangement by FISH (4/251; 1.6 %). All cases were non-smokers (4/79; 5.1 %), and all were positive for ALK by IHC. No additional cases were considered positive by IHC, and only 26 (10.4 %) cases were considered equivocal using a conservative approach to interpretation, resulting in a sensitivity of 100 % and specificity of 89.5 %. ALK rearrangement was not observed in lung adenocarcinoma arising in long-term ex-smokers, whereas it is seen in up to 5.1 % of lifetime non-smokers. ALK IHC using the 5A4 antibody demonstrates high sensitivity, supporting its use as a screening test.
在所有非小细胞肺癌中,ALK基因重排的发生率为2%-5%,在终生不吸烟者的腺癌中更为常见,但ALK重排在长期戒烟者(诊断前戒烟超过10年)中的发生率尚未得到很好的描述。鉴于对靶向抑制剂有显著反应,准确及时地诊断ALK重排肿瘤具有临床重要性。ALK基因重排可通过荧光原位杂交(FISH)检测,ALK蛋白的异常表达可通过免疫组织化学(IHC)检测,后者更快且成本更低。本研究的目的是评估非吸烟者和长期戒烟者肺腺癌中ALK重排的发生率,并与FISH相比评估IHC检测ALK阳性肿瘤的性能。回顾性分析了251例切除的肺腺癌病例,包括非吸烟者(n=79)或长期戒烟者(n=172)。对每个病例进行了ALK IHC和ALK FISH检测。4例通过FISH显示ALK重排(4/251;1.6%)。所有病例均为非吸烟者(4/79;5.1%),且所有病例的IHC检测ALK均为阳性。没有其他病例被IHC判定为阳性,采用保守的解释方法时,只有26例(10.4%)被判定为可疑,灵敏度为100%,特异性为89.5%。长期戒烟者发生的肺腺癌中未观察到ALK重排,而在高达5.1%的终生不吸烟者中可见。使用5A4抗体的ALK IHC显示出高灵敏度,支持将其用作筛查试验。